Varaico: Literature-Extracted Genetic Variants

Gene:FANCG
Variant:p.T550delFs
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FANCG

NM_004629.2:p.T550delFs

Associated Papers

Fanconi Anemia Patients from an Indigenous Community in Mexico Carry a New Founder Pathogenic Variant in FANCG.

Reyes P et al.

International Journal of Molecular Sciences, 2022

Role of variant allele fraction and rare SNP filtering to improve cellular DNA repair endpoint association.

Vossen DM et al.

Plos One, 2018

Genotype-phenotype correlations in Fanconi anemia.

Neveling K et al.

Mutation Research, 2009

Fanconi anemia in a neonate with pancytopenia.

Landmann E et al.

The Journal of Pediatrics, 2004

Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study.

Auerbach AD et al.

Human Mutation, 2003

Functional analysis of patient-derived mutations in the Fanconi anemia gene, FANCG/XRCC9.

Nakanishi K et al.

Experimental Hematology, 2001

Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.

Demuth I et al.

European Journal of Human Genetics : Ejhg, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."